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. 2023 Jun:69:103066.
doi: 10.1016/j.scr.2023.103066. Epub 2023 Mar 11.

Generation of a heterozygous and a homozygous CSF1R knockout line from iPSC using CRISPR/Cas9

Anne S Schmitz  1 , Milena Korneck  2 , Janani Raju  1 , Andrés Lamsfus-Calle  3 , Alberto Daniel-Moreno  3 , Justin S Antony  3 , Markus Mezger  3 , Ludger Schöls  2 , Stefan Hauser  1 , Stefanie N Hayer  4
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Free article

Generation of a heterozygous and a homozygous CSF1R knockout line from iPSC using CRISPR/Cas9

Anne S Schmitz et al. Stem Cell Res. 2023 Jun.
Free article

Abstract

Mutations in Colony-stimulating factor 1 receptor (CSF1R) lead to CSF1R-related leukoencephalopathy, also known as Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), a rapidly progressing neurodegenerative disease with severe cognitive and motor impairment. In this study, a homozygous and a heterozygous CSF1R knockout induced pluripotent stem cell (iPSC) line were generated by CRISPR/Cas9-based gene editing. These in vitro models will provide a helpful tool for investigating the still largely unknown pathophysiology of CSF1R-related leukoencephalopathy.

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Conflict of interest statement

Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

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